Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs549220260
rs549220260
2 19 4426168 intron variant TTTTTTTT/-;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT delins 0.700 1.000 1 2016 2016